Linked Data
ClinVar Variation Id:
10890
ClinVar RCV Id:
RCV000011637
dbSNP Id:
rs137853258
gnomAD v4:
X-19357683-G-A
PubMed:
PMID:10486093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357683G>A , CM000685.2:g.19357683G>A | GRCh38 |
| NC_000023.10:g.19375801G>A , CM000685.1:g.19375801G>A | GRCh37 |
| NC_000023.9:g.19285722G>A | NCBI36 |
| NG_016781.1:g.18791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.884G>A | ENSP00000348062.6:p.Arg295His | |
| ENST00000379805.4:c.*555G>A | ENSP00000369133.3:n.*555G>A | |
| ENST00000417819.6:c.947G>A | ENSP00000404616.2:p.Arg316His | |
| ENST00000423505.6:c.977G>A | ENSP00000406473.2:p.Arg326His | |
| ENST00000481733.2:n.658G>A | ||
| ENST00000696704.1:c.*195G>A | ENSP00000512823.1:n.*195G>A | |
| ENST00000696705.1:c.*318G>A | ENSP00000512824.1:n.*318G>A | |
| ENST00000422285.7:c.863G>A MANE Select | ENSP00000394382.2:p.Arg288His | |
| ENST00000379804.1:c.20G>A | ENSP00000369132.1:p.Arg7His | |
| ENST00000379806.9:c.977G>A | ENSP00000369134.5:p.Arg326His | |
| ENST00000422285.6:c.863G>A | ENSP00000394382.2:p.Arg288His | |
| ENST00000478795.1:n.302G>A | ||
| ENST00000481733.1:n.291G>A | ||
| ENST00000540249.5:c.770G>A | ENSP00000440761.1:p.Arg257His | |
| ENST00000545074.5:c.884G>A | ENSP00000438550.1:p.Arg295His | |
| NM_000284.3:c.863G>A | NP_000275.1:p.Arg288His | |
| NM_001173454.1:c.977G>A | NP_001166925.1:p.Arg326His | |
| NM_001173455.1:c.884G>A | NP_001166926.1:p.Arg295His | |
| NM_001173456.1:c.770G>A | NP_001166927.1:p.Arg257His | |
| XM_011545531.1:c.998G>A | XP_011543833.1:p.Arg333His | |
| XM_011545532.1:c.905G>A | XP_011543834.1:p.Arg302His | |
| XM_017029574.2:c.884G>A | XP_016885063.1:p.Arg295His | |
| NM_000284.4:c.863G>A MANE Select | NP_000275.1:p.Arg288His | |
| NM_001173454.2:c.977G>A | NP_001166925.1:p.Arg326His | |
| NM_001173455.2:c.884G>A | NP_001166926.1:p.Arg295His | |
| NM_001173456.2:c.770G>A | NP_001166927.1:p.Arg257His |